Embryopathy: Causes, Symptoms & Treatment

Embryopathies are all malformations of the embryo that result from harmful influences in the early stages of pregnancy. The best-known embryopathies are infectious, stimulant, and drug embryopathies. The symptoms and their treatment depend on the severity of each.

What is an embryopathy?

Embryopathies are congenital diseases and malformations that result from various disorders in early embryonic development. In particular, developmental disorders up to the eighth week after fertilization and thus the approximately tenth week of pregnancy are grouped together as embryopathies. Up to this point, the unborn child is particularly sensitive. Since organs are specifically formed at this stage of development, harmful influences can even induce miscarriage depending on the degree of exposure up to this point in the pregnancy. In the case of embryopathy, the embryo does not abort despite damage, but is born with varying degrees of malformation. Embryopathy must be distinguished from the so-called fetopathy. Fetopathy is also caused by prenatal damaging influences, which, however, affect a later stage of development. Depending on their exact cause, embryopathies are further subdivided, for example, into alcohol, tobacco, or thalidomide-contergan embryopathy.

Causes

The causes of embryopathies are divided into four major groups. The first of these is infectious diseases of the mother in early pregnancy. This group is sometimes the best-known group of embryopathies and includes, for example, the harmful effects that maternal infections with rubella, ringworm, chickenpox, or listeriosis, cytomegaly, and toxoplasmosis show on the fetus. Infections with herpes simplex or Epstein-Barr virus can be just as harmful as those mentioned. The second group of embryopathies is formed by developmental disorders caused by the effects of drugs, such as those that occurred in the thalidomide scandal. Chemicals and stimulants can also cause embryopathies, for example in fetal alcohol syndrome or the lead child phenomenon. In addition, the mother’s age, weight, diet, and any medical conditions affect the early pregnancy development of the embryo. Diabetes mellitus and thyroid dysfunction or phenylketonuria and heart defects are thus associated with an increased risk of embryopathies. The same is true for malnutrition. In addition, ionizing radiation such as X-rays or radioactive radiation can harm the embryo during pregnancy. Some genetic diseases are further favored in their onset by embryopathies.

Symptoms, complaints, and signs

Children with embryopathies may show a wide range of different symptoms. The degree of expression depends on the severity and duration of exposure to the harmful agents. For example, rubella embryopathy is typically associated with heart defects, cataracts, and deafness. In addition, affected newborns are often underweight, have impaired cognitive development, or have a relatively small head. Diabetic embryopathies are also associated with heart defects. In addition, the children often show congenital kidney malformations and skeletal dysplasias. Alcohol embryopathy alters the external appearance of the children, causing, for example, narrow lip red, flattened philtrum, dimpling of the upper lip, drooping eyelid axes, and small head circumference. The most serious symptom in this context is primarily the cognitive developmental delay of the affected children. Heart defects are also not atypical. Thalidomide embryopathy, on the other hand, causes missing auricles and paralysis of the facial nerve. In addition, arm, leg, and thumb malformations and narrowing of the rectum may be characteristic symptoms.

Diagnosis

Most embryopathies can be diagnosed by visual diagnosis immediately after the child is born. To obtain a more accurate picture of individual symptoms, the physician uses imaging techniques and consults physicians and examinations from all specialties. The medical history can provide information about the cause of the malformations, such as an infection of the mother during pregnancy.However, especially in the case of embryopathies due to medication, alcohol or drug abuse, mothers are often reluctant to provide the doctor with information in the medical history. For some embryopathies, the cause cannot be determined even today.

Complications

Various complications can occur with embryopathy. These depend mainly on the cause of the embryopathy and the substances that the mother has given to the body during pregnancy. As a rule, however, there are malformations in the child, which can affect both the mental and physical characteristics. Often, the abuse of alcohol, drugs, cigarettes or medications leads to the formation of a heart defect in the child. The child may also be affected by deafness or be born with cataracts. However, Genoa cannot predict which complications will affect the child. Similarly, there may be malformations in the kidneys and also in the brain. Due to the malformations in the brain, the child often has limited motor skills and suffers from mental retardation. The child’s development can also be severely slowed by embryopathy, so that the affected person will be dependent on the help of others in his or her life. Embryopathy cannot be treated until after birth, and it is not possible to treat all symptoms. Malformations and heart defects are usually treated surgically immediately after birth. Developmental disorders can only be limited with the help of therapies. Often the parents are also psychologically burdened by the symptom.

When should one go to the doctor?

To avoid complications, children suffering from embryopathy should be examined by a pediatrician at regular intervals. Additional visits to the doctor are necessary if symptoms develop. For example, if signs of deafness or visual disturbances are noticed, this requires prompt medical evaluation. In case of serious complications, it is best to call an emergency physician. Children suffering from kidney malformation or other damage to the organs or skeleton due to embryopathy should be taken to a specialist. In the best case, malformation of the embryo is detected during pregnancy. Children whose mothers had an infectious disease in early pregnancy are particularly affected. Diabetes mellitus, thyroid dysfunction and heart defects are also typical risk factors. Mothers who belong to these risk groups should arrange for an ultrasound examination at an early stage in order to be able to exclude embryopathy or to be able to take appropriate preparatory measures in the event of a malformation. Medical diagnosis and treatment of embryopathy is required in any case.

Treatment and therapy

The therapy of embryopathy depends on the symptoms in each individual case. Usually, the initial focus of therapy is the correction of vital organs. Because heart defects are often present, malformations of the limbs initially take a back seat. Heart defects are first carefully examined by the physician to determine whether they can be corrected. If correction by heart surgery is not possible or not absolutely necessary, those affected usually receive medication to support their heart’s work. Malformations of the kidneys can also assume life-threatening proportions. Severe kidney malformations require dialysis treatment, which regularly cleanses the patient’s blood of toxins. In the case of both severe heart defects and severe kidney abnormalities, organ transplantation is the only possible option after a certain point to permanently cure patients of their symptoms. If there are only malformations of the limbs, these are also treated surgically in most cases. In this context, extensive options are available in the form of prostheses and endoprostheses, which can make patients’ everyday lives easier. Especially in the case of cognitive impairments, early therapeutic fostering is also indicated, which can support the cognitive development of the affected children.

Outlook and prognosis

Embryopathies very often result in early miscarriage, which is often not even recognized as such by the woman. The woman experiences bleeding that is only noticeable because it is heavier than a menstrual period and may be associated with pain.In the event of a miscarriage, the affected woman must be examined by a doctor to determine whether the uterine lining has completely shed. Otherwise, if there is still something in the uterus, dangerous infections can occur that resemble puerperal fever and are at least as dangerous. To prevent this, it may be necessary to scrap the uterus. If embryopathy does not cause a miscarriage and the embryo survives the first weeks of pregnancy, it is born with more or less severe malformations that are difficult to predict. In such cases, affected parents have the option of aborting the child even after the 12th week of pregnancy, if they do not want to subject it to such a life. However, this is a very personal and, above all, difficult decision that takes time. So early in pregnancy, the likely damage to health is still difficult to assess. As it progresses, it becomes clearer what embryopathy has left on the child and what life awaits it when it is born.

Prevention

Preventing embryopathies as much as possible is the responsibility of the expectant mother. All harmful influences on the child should be avoided as far as possible, such as X-ray examinations, alcohol consumption or tobacco use. In addition, the mother should prevent infections even before pregnancy, as far as vaccinations are available. Medications cannot be discontinued in certain cases. In these cases, the mother must either accept the risk of embryopathy or decide against having her own child at this time.

Follow-up

In cases of embryopathy, the options for aftercare are very limited. First, early diagnosis with prompt treatment is very important to prevent or limit further complications or symptoms. The treatment of embryopathy itself usually depends on its degree of difficulty. In most cases, the symptoms of embryopathy are treated by various surgical procedures. After these interventions, the affected person must always rest and take care of his body. They should refrain from exertion or other stressful and physical activities in order not to put unnecessary strain on the body. Since embryopathy can also lead to severe psychological upsets or depression, appropriate treatment by a psychologist should also be undertaken. Here also the own family or friends can support the concerning with problems of such physician well and provide assistance. Also the development of the children concerned should always be promoted thereby. Thereby also in the own home different exercises can be accomplished, in order not to slow down the development. Whether embryopathy leads to a reduced life expectancy of the affected person, can not be universally predicted.

Here’s what you can do yourself

Because embryopathies are caused by harmful influences in the early stages of pregnancy, the most effective self-help measure is prevention. Most often, an embryo is harmed by alcohol, tobacco, and other drugs, as well as by medications and certain infectious diseases. Women who frequently and readily consume alcohol and cigarettes should decide before becoming pregnant whether they really want to and are able to give up these stimulants over a longer period of time. It is best for affected women to start giving up consumption before they try to become pregnant. Medication, including over-the-counter drugs, should only be taken during pregnancy after consulting a doctor. If abstaining from medication is not indicated, pregnancy should be postponed, and in the case of permanent dependence on medication, it should be reconsidered in principle. Infectious diseases cannot be reasonably prevented during pregnancy. However, vaccinations are possible against certain pathogens that are particularly dangerous during pregnancy, such as the rubella virus. The self-help measures that can be taken after the birth of the child depend on the type of malformation. In the case of damage to the skeleton or internal organs, numerous surgical procedures are usually required shortly after birth or in infancy. This places a burden not only on the patient, but also on the parents and family members.Sufferers should not be afraid to seek the help of a therapist in this situation.